✦ LIBER ✦

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

✍ Scribed by Wen-Chen Liang; Aya Ohkuma; Yukiko K. Hayashi; Luis Carlos López; Michio Hirano; Ikuya Nonaka; Satoru Noguchi; Liang-Hui Chen; Yuh-Jyh Jong; Ichizo Nishino

Book ID: 116793866
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 1013 KB
Volume: 19
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2009.01.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations in ETFDH gene in Chinese

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

✍ Lap-Kay Law; Nelson L.S. Tang; Joannie Hui; Simon L.M. Fung; Jos Ruiter; Ronald 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 276 KB

G.P.3.11 Novel ETFDH mutations and norma

G.P.3.11 Novel ETFDH mutations and normal CoQ10 level in Taiwanese patients with multiple acyl-CoA dehydrogenase deficiency

✍ W.C. Liang; A. Ohkuma; Y.K. Hayashi; L.C. Lopez; M. Hirano; I. Nonaka; S. Noguch 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 64 KB

A Case of Late-onset Riboflavin Responsi

A Case of Late-onset Riboflavin Responsive Multiple acyl-CoA Dehydrogenase Deficiency with Novel Mutations in ETFDH Gene

✍ Zhao, Zhang-Ning; Bao, Meng-Xin; Ma, Gao-Ting; Liu, Xiao-Min; Xu, Wen-Juan; Sun, 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB

P.17.10 New ETFDH mutations in a group o

P.17.10 New ETFDH mutations in a group of Italian patients with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency (RR-MADD)

✍ Toscano, A.; Barca, E.; Rodolico, C.; Romeo, S.; Ciranni, A.; Aguennouz, M.; Vit 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 46 KB

M.P.4.17 Late onset multiple acyl-CoA de

M.P.4.17 Late onset multiple acyl-CoA dehydrogenase deficiency (MADD) associated with novel ETFDH mutations in two Chinese patients

✍ Z. Pramono; P. Lai; I. Tan; M. Lim; I. Seah; W. Yee 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 46 KB

Central nervous system and muscle involv

Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

✍ Kiyoko Ishii; Hirofumi Komaki; Aya Ohkuma; Ichizo Nishino; Ikuya Nonaka; Masayuk 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 492 KB